SAN FRANCISCO (GenomeWeb) – Developers of next-generation sequencing-based tests said this week that despite improvements to sequencing technology, there are still significant challenges in developing clinical NGS-based gene panels.

These challenges include, but go beyond, the sequencing technology itself, and include differences in laboratories' bioinformatics pipelines, DNA extraction and sample prep protocols, as well as differences in the sample itself.

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In an against-all-odds twist, a researcher studying exceeding rare FOXG1 mutations discovers her daughter has the syndrome.

An effort by Genomics Medicine Ireland is creating a database of diseases based on the genomics of people in Ireland. It now is looking into the possibility of including Scotland in its work.

In recent weeks, the direct-to-consumer genetics firm has rolled out a health hub where customers can share information concerning 18 common health conditions.

In PLOS this week, new genes associated with prostate cancer risk, genetic patterns in M. bovis, and more.

Jun
12
Sponsored by
Philips Genomics

This webinar will highlight a comprehensive end-to-end solution for precision care in oncology, comprising sample acquisition through to sequencing and analysis, treatment recommendations, and follow-through.

Jun
28
Sponsored by
PerkinElmer

This webinar will review a standardized, high-throughput, and fully automated library prep protocol for human metagenomic analysis.